Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839726C>TCA16030382APCc.3797C>T (n.3797C>T)
c.4186C>T (p.Gln1396Ter)
c.*4138C>T (n.*4138C>T)
c.4078C>T (p.Gln1360Ter)
c.4132C>T (p.Gln1378Ter)
c.2485C>T
c.*3454C>T (n.*3454C>T)
c.230+10754C>T
c.4162C>T (p.Gln1388Ter)
c.4057C>T (p.Gln1353Ter)
c.4048C>T (p.Gln1350Ter)
c.4009C>T (p.Gln1337Ter)
c.3955C>T (p.Gln1319Ter)
c.3859C>T (p.Gln1287Ter)
c.3829C>T (p.Gln1277Ter)
c.3754C>T (p.Gln1252Ter)
c.3652C>T (p.Gln1218Ter)
c.3283C>T (p.Gln1095Ter)
ClinVar dbSNP COSMIC
5g.112839726C>GCA16030381APCc.3797C>G (n.3797C>G)
c.4186C>G (p.Gln1396Glu)
c.*4138C>G (n.*4138C>G)
c.4078C>G (p.Gln1360Glu)
c.4132C>G (p.Gln1378Glu)
c.2485C>G
c.*3454C>G (n.*3454C>G)
c.230+10754C>G
c.4162C>G (p.Gln1388Glu)
c.4057C>G (p.Gln1353Glu)
c.4048C>G (p.Gln1350Glu)
c.4009C>G (p.Gln1337Glu)
c.3955C>G (p.Gln1319Glu)
c.3859C>G (p.Gln1287Glu)
c.3829C>G (p.Gln1277Glu)
c.3754C>G (p.Gln1252Glu)
c.3652C>G (p.Gln1218Glu)
c.3283C>G (p.Gln1095Glu)
dbSNP
5g.112839726C>ACA16030380APCc.3797C>A (n.3797C>A)
c.4186C>A (p.Gln1396Lys)
c.*4138C>A (n.*4138C>A)
c.4078C>A (p.Gln1360Lys)
c.4132C>A (p.Gln1378Lys)
c.2485C>A
c.*3454C>A (n.*3454C>A)
c.230+10754C>A
c.4162C>A (p.Gln1388Lys)
c.4057C>A (p.Gln1353Lys)
c.4048C>A (p.Gln1350Lys)
c.4009C>A (p.Gln1337Lys)
c.3955C>A (p.Gln1319Lys)
c.3859C>A (p.Gln1287Lys)
c.3829C>A (p.Gln1277Lys)
c.3754C>A (p.Gln1252Lys)
c.3652C>A (p.Gln1218Lys)
c.3283C>A (p.Gln1095Lys)
dbSNP

Number of alleles fetched